Description
hexosaminidase B (beta polypeptide) [Source:HGNC Symbol;Acc:4879]
Gene Synonyms
ENC-1AS, HEL-248
Location
Chromosome 5: 73,935,848-74,018,472 forward strand.
GRCh37:CM000667.1
About this gene
This gene has 13 transcripts (splice variants), 1 paralogue and is associated with 6 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000511181.1 | HEXB-002 | 2021 | 331aa | ENSP00000426285.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6REQ8 Q5URX0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000261416.7 | HEXB-001 | 1901 | 556aa | ENSP00000261416.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4022 | D6REQ8 P07686 Q5URX0 | NM_000521.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000509579.1 | HEXB-009 | 806 | 35aa | ENSP00000424939.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6REQ8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000513336.1 | HEXB-007 | 720 | 202aa | ENSP00000423713.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6REQ8 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000503312.1 | HEXB-013 | 756 | 170aa | ENSP00000426384.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000505859.1 | HEXB-011 | 604 | 52aa | ENSP00000424550.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000513539.1 | HEXB-004 | 502 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000513079.1 | HEXB-003 | 1684 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000504459.1 | HEXB-008 | 899 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000515528.1 | HEXB-005 | 876 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000513867.1 | HEXB-012 | 711 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000510820.1 | HEXB-006 | 427 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000511621.1 | HEXB-010 | 288 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
